Varaico: Literature-Extracted Genetic Variants

Gene:POP1
Variant:p.P525S
Back to variants list

POP1

NM_001145860.2:p.P525S

Associated Papers

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Elalaoui SC et al.

American Journal of Medical Genetics. Part A, 2016

'POP'! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing.

Sutton LM

Clinical Genetics, 2011

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

Glazov EA et al.

Plos Genetics, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."